Published in Arch Dermatol on January 01, 2005
Adrenocortical carcinoma. Endocr Rev (2013) 1.46
Whole Exome Sequencing of Growing and Non-Growing Cutaneous Neurofibromas from a Single Patient with Neurofibromatosis Type 1. PLoS One (2017) 1.39
Intercostal aneurysm causing spinal cord compression in an NF1 patient. Eur Spine J (2013) 1.38
Prognostic relevance of FDG PET in patients with neurofibromatosis type-1 and malignant peripheral nerve sheath tumours. Eur J Nucl Med Mol Imaging (2006) 1.32
Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989. Eur J Hum Genet (2011) 1.27
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. Hum Genomics (2011) 1.17
The pathoetiology of neurofibromatosis 1. Am J Pathol (2011) 1.13
MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology (2006) 0.94
Oral soft tissue alterations in patients with neurofibromatosis. Clin Oral Investig (2011) 0.92
Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol (2014) 0.91
c-Fms signaling mediates neurofibromatosis Type-1 osteoclast gain-in-functions. PLoS One (2012) 0.90
Diffuse plexiform neurofibroma of the back: report of a case. Hawaii Med J (2010) 0.89
Glioblastoma multiforme in the posterior cranial fossa in a patient with neurofibromatosis type I. Case Rep Med (2009) 0.89
An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age. Ulster Med J (2008) 0.88
Optimizing biologically targeted clinical trials for neurofibromatosis. Expert Opin Investig Drugs (2013) 0.88
Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR. Mol Cancer (2006) 0.87
Recurrent abdominal complaints caused by a cecal neurofibroma: a case report. World J Gastroenterol (2011) 0.83
Decoding NF1 Intragenic Copy-Number Variations. Am J Hum Genet (2015) 0.83
Development of the adult PedsQL™ neurofibromatosis type 1 module: initial feasibility, reliability and validity. Health Qual Life Outcomes (2013) 0.82
Preclinical assessment of the anticancer drug response of plexiform neurofibroma tissue using primary cultures. J Clin Neurol (2015) 0.81
Fractional anisotropy of the optic radiations is associated with visual acuity loss in optic pathway gliomas of neurofibromatosis type 1. Neuro Oncol (2013) 0.78
Update from the 2013 International Neurofibromatosis Conference. Am J Med Genet A (2014) 0.78
Parental age and Neurofibromatosis Type 1: a report from the NF1 Patient Registry Initiative. Fam Cancer (2015) 0.77
Neurofibromatosis type 1 and pregnancy: The transformation of a nodular to cystic neurofibroma in the cervical region. Surg Neurol Int (2015) 0.75
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. J Med Case Rep (2011) 0.75
Conflict processing in juvenile patients with neurofibromatosis type 1 (NF1) and healthy controls - Two pathways to success. Neuroimage Clin (2017) 0.75
The NF1 somatic mutational landscape in sporadic human cancers. Hum Genomics (2017) 0.75
fdg-pet in two cases of neurofibromatosis type 1 and atypical malignancies. Curr Oncol (2014) 0.75
Screening school-aged children for neurofibromatosis 1: dermatology or economics and public policy? Arch Dermatol (2005) 0.75
Using the neurofibromatosis tumor predisposition syndromes to understand normal nervous system development. Scientifica (Cairo) (2014) 0.75
Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge-Weber Syndrome. Front Neurol (2017) 0.75
Emerging genotype-phenotype relationships in patients with large NF1 deletions. Hum Genet (2017) 0.75
Non-optic glioma in adults and children with neurofibromatosis 1. Orphanet J Rare Dis (2017) 0.75
Wnt Signaling in Ewing Sarcoma, Osteosarcoma, and Malignant Peripheral Nerve Sheath Tumors. Curr Osteoporos Rep (2017) 0.75
[Eye involvement in neurofibromatosis]. Ophthalmologe (2016) 0.75
Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network. J Autism Dev Disord (2016) 0.75
Human stem cell modeling in neurofibromatosis type 1 (NF1). Exp Neurol (2017) 0.75
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth. Hum Genet (2017) 0.75
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Maternal treatment with opioid analgesics and risk for birth defects. Am J Obstet Gynecol (2011) 4.14
Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects. N Engl J Med (2007) 3.79
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet (2009) 3.01
Clinical and genetic aspects of neurofibromatosis 1. Genet Med (2010) 2.77
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet (2002) 2.65
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet (2006) 2.11
Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey. BMJ (2009) 2.02
"I want to know what's in Pandora's Box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. Am J Med Genet A (2012) 2.00
Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues. Cancer Res (2006) 1.80
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet (2012) 1.60
The sensitivity of massively parallel sequencing for detecting candidate infectious agents associated with human tissue. PLoS One (2011) 1.53
Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard. Genet Med (2013) 1.48
Treatment of ADHD in neurofibromatosis type 1. Dev Med Child Neurol (2002) 1.47
Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability. Am J Hum Genet (2010) 1.47
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors. Genes Chromosomes Cancer (2011) 1.36
Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images. Radiology (2009) 1.36
High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clin Cancer Res (2008) 1.34
Decreased bone mineral density in patients with neurofibromatosis 1. Osteoporos Int (2005) 1.33
Prognostic relevance of FDG PET in patients with neurofibromatosis type-1 and malignant peripheral nerve sheath tumours. Eur J Nucl Med Mol Imaging (2006) 1.32
Patterns of antidepressant medication use among pregnant women in a United States population. J Clin Pharmacol (2010) 1.28
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. J Med Genet (2007) 1.28
Establishment and characterization of a schwannoma cell line from a patient with neurofibromatosis 2. Int J Oncol (2002) 1.28
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. Epilepsia (2003) 1.27
Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Hum Mutat (2008) 1.25
Medications in the first trimester of pregnancy: most common exposures and critical gaps in understanding fetal risk. Pharmacoepidemiol Drug Saf (2013) 1.25
Histopathology and clinical outcome of NF1-associated vs. sporadic malignant peripheral nerve sheath tumors. J Neurooncol (2006) 1.18
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. Orphanet J Rare Dis (2012) 1.17
Selective serotonin-reuptake inhibitors and persistent pulmonary hypertension of the newborn. N Engl J Med (2006) 1.16
Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients. Neurobiol Dis (2004) 1.15
Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. PLoS One (2012) 1.13
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Orphanet J Rare Dis (2014) 1.12
Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol (2008) 1.12
Plexiform neurofibromas in children with neurofibromatosis type 1: frequency and associated clinical deficits. J Pediatr (2011) 1.09
Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1 (NF1): diagnostic findings on magnetic resonance images and mutation analysis of the NF1 gene. Anticancer Res (2005) 1.08
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J Med Genet (2007) 1.06
Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: a cohort study of 703 patients. Am J Med Genet A (2005) 1.05
Genetic diagnosis through whole-exome sequencing. N Engl J Med (2014) 1.05
Beyond the patient: the broader impact of genetic discrimination among individuals at risk of Huntington disease. Am J Med Genet B Neuropsychiatr Genet (2012) 1.03
Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation. Curr Protoc Hum Genet (2008) 1.03
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab (2007) 1.02
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics (2009) 1.02
Do hormonal contraceptives stimulate growth of neurofibromas? A survey on 59 NF1 patients. BMC Cancer (2005) 1.01
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A (2009) 1.00
Impact of BRCA mutations on female fertility and offspring sex ratio. Am J Hum Biol (2010) 0.99
A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. Eur J Med Genet (2009) 0.99
Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study. J Neurosurg (2002) 0.98
Maternal use of bupropion and risk for congenital heart defects. Am J Obstet Gynecol (2010) 0.96
Evaluation of intratumoural heterogeneity on ¹⁸F-FDG PET/CT for characterization of peripheral nerve sheath tumours in neurofibromatosis type 1. Eur J Nucl Med Mol Imaging (2012) 0.96
Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID. Am J Med Genet A (2009) 0.95
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Am J Hum Genet (2007) 0.94
Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults. Am J Clin Nutr (2012) 0.94
Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. Hum Genet (2005) 0.94
Safe lists for medications in pregnancy: inadequate evidence base and inconsistent guidance from Web-based information, 2011. Pharmacoepidemiol Drug Saf (2013) 0.93
Whole-body MRI in neurofibromatosis: incidental findings and prevalence of scoliosis. Skeletal Radiol (2011) 0.92
Comparative effectiveness of 18F-FDG PET/CT versus whole-body MRI for detection of malignant peripheral nerve sheath tumors in neurofibromatosis type 1. Clin Nucl Med (2013) 0.91
Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. Neurogenetics (2010) 0.91
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Hum Mutat (2011) 0.91
Safety of selective serotonin reuptake inhibitors in pregnancy. CNS Drugs (2009) 0.89
Patterns of associations of clinical features in neurofibromatosis 1 (NF1). Hum Genet (2002) 0.89
Germline and somatic NF1 gene mutations in plexiform neurofibromas. Hum Mutat (2008) 0.89
Unilateral vestibular schwannoma with other neurofibromatosis type 2-related tumors: clinical and molecular study of a unique phenotype. J Neurosurg (2006) 0.89
Efficacy and selectivity of nilotinib on NF1-associated tumors in vitro. J Neurooncol (2013) 0.89
Immunohistochemical analysis of p16 expression, HPV infection and its prognostic utility in oral squamous cell carcinoma. J Oral Pathol Med (2013) 0.88
Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. Genes Chromosomes Cancer (2009) 0.88
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. Hum Mutat (2010) 0.88
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet (2009) 0.88
Ral overactivation in malignant peripheral nerve sheath tumors. Mol Cell Biol (2009) 0.88
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics (2011) 0.88
Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: a method based on tumor analysis. Genet Med (2002) 0.88
Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors. BMC Med (2013) 0.88
Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens. Acta Neuropathol (2002) 0.88
Prognostic relevance of circulating tumor cells in blood and disseminated tumor cells in bone marrow of patients with squamous cell carcinoma of the oral cavity. Clin Cancer Res (2013) 0.87
Genomic imbalance of HMMR/RHAMM regulates the sensitivity and response of malignant peripheral nerve sheath tumour cells to aurora kinase inhibition. Oncotarget (2013) 0.87
Imatinib mesylate (Glivec) inhibits Schwann cell viability and reduces the size of human plexiform neurofibroma in a xenograft model. J Neurooncol (2009) 0.86
Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium. J Pediatr Orthop (2013) 0.86
Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors. Mol Cancer Res (2004) 0.86
Efficacy and side effects of chinese herbal medicine for menopausal symptoms: a critical review. Evid Based Complement Alternat Med (2013) 0.86
Gene expression analysis identifies potential biomarkers of neurofibromatosis type 1 including adrenomedullin. Clin Cancer Res (2010) 0.86
Intracranial and spinal melanotic schwannoma in the same patient. J Neurooncol (2004) 0.86
Management of multiple sclerosis during pregnancy and the reproductive years: a systematic review. Obstet Gynecol (2014) 0.84
18F-FDG PET/CT for detection of malignant peripheral nerve sheath tumours in neurofibromatosis type 1: tumour-to-liver ratio is superior to an SUVmax cut-off. Eur Radiol (2013) 0.84
Sensitivity of malignant peripheral nerve sheath tumor cells to TRAIL is augmented by loss of NF1 through modulation of MYC/MAD and is potentiated by curcumin through induction of ROS. PLoS One (2013) 0.83
Cancer stem cell-like cells derived from malignant peripheral nerve sheath tumors. PLoS One (2011) 0.83
Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions. Neurogenetics (2012) 0.83
Overexpression of Midkine in malignant peripheral nerve sheath tumor cells inhibits apoptosis and increases angiogenic potency. Int J Oncol (2005) 0.82
Sulindac derivatives inhibit cell growth and induce apoptosis in primary cells from malignant peripheral nerve sheath tumors of NF1-patients. Cancer Cell Int (2004) 0.82
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Hum Mutat (2010) 0.82
Empirical development of improved diagnostic criteria for neurofibromatosis 2. Genet Med (2011) 0.82
Factors associated with experiences of genetic discrimination among individuals at risk for Huntington disease. Am J Med Genet B Neuropsychiatr Genet (2010) 0.82
Immunohistochemical and FISH analysis of EGFR and its prognostic value in patients with oral squamous cell carcinoma. J Oral Pathol Med (2013) 0.81
Loss of heterozygosity in tumor cells of a recurrent mandibular giant cell granuloma in neurofibromatosis type 1. Anticancer Res (2007) 0.81